Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CMYA5	202333	broad.mit.edu	37	5	79029420	79029420	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr5:79029420A>G	ENST00000446378.2	+	2	4863	c.4832A>G	c.(4831-4833)cAa>cGa	p.Q1611R		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1611						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCAGAAAAACAAGATGTTGCT	0.453000													5	131					0	0	0.000602	0	0
SLC4A4	8671	broad.mit.edu	37	4	72400068	72400068	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr4:72400068C>T	ENST00000340595.3	+	15	2469	c.2273C>T	c.(2272-2274)aCa>aTa	p.T758I	SLC4A4_ENST00000351898.6_Missense_Mutation_p.T802I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.T802I|SLC4A4_ENST00000264485.5_Missense_Mutation_p.T802I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	802	Interaction with CA4.					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CAACAAATTACAGCTGTGATT	0.408000													24	69					0	0	0.003954	0	0
PLCL2	23228	broad.mit.edu	37	3	17052663	17052663	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr3:17052663G>A	ENST00000418129.2	+	2	1912	c.1447G>A	c.(1447-1449)Gtg>Atg	p.V483M	PLCL2_ENST00000432376.1_Missense_Mutation_p.V483M|PLCL2_ENST00000396755.2_Missense_Mutation_p.V483M	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	609	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TAATGTGCCTGTGAAGCGATT	0.433000													6	39					0	0	0.001168	0	0
WWOX	51741	broad.mit.edu	37	16	78466443	78466443	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr16:78466443A>G	ENST00000566780.1	+	8	1216	c.850A>G	c.(850-852)Aaa>Gaa	p.K284E	WWOX_ENST00000408984.3_Missense_Mutation_p.K284E|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	284	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CTCTCCAACAAAAAACGACTA	0.478000													10	50					0	0	0.006214	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287597	29287597	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr13:29287597T>C	ENST00000266943.6	-	3	649	c.280A>G	c.(280-282)Att>Gtt	p.I94V	SLC46A3_ENST00000380814.4_Missense_Mutation_p.I94V	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	94					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TGATCACTAATAGACAAAAGT	0.398000													10	15					0	0	0.008291	0	0
COLEC10	10584	broad.mit.edu	37	8	120103450	120103450	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr8:120103450G>T	ENST00000332843.2	+	3	324	c.283G>T	c.(283-285)Ggg>Tgg	p.G95W	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	95	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TGGGCCCATTGGGAAGAAGGG	0.428000													11	41					2.80697e-09	5.27371e-09	0.000978	1	0
OR5D18	219438	broad.mit.edu	37	11	55587107	55587107	+	Translation_Start_Site	SNP	T	T	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr11:55587107T>C	ENST00000333976.4	+	1	22	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACAGAAGCGATGCTGCTGACT	0.433000													10	37					0	0	0.001855	0	0
TRNAU1AP	54952	broad.mit.edu	37	1	28904082	28904082	+	Silent	SNP	C	C	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr1:28904082C>T	ENST00000373830.3	+	9	824	c.798C>T	c.(796-798)gaC>gaT	p.D266D		NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	266					selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						AGCTGTATGACGCTCTGATGG	0.552000													11	148					0	0	0.008291	0	0
ZZEF1	23140	broad.mit.edu	37	17	3985756	3985756	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr17:3985756A>G	ENST00000381638.2	-	17	2813	c.2689T>C	c.(2689-2691)Ttc>Ctc	p.F897L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	897							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGTGAACGGAAAGTGAGCTGC	0.413000													17	27					0	0	0.006122	0	0
ERCC5	2073	broad.mit.edu	37	13	103513872	103513872	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr13:103513872T>C	ENST00000355739.4	+	7	2111	c.688T>C	c.(688-690)Tca>Cca	p.S230P	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.F655S	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGATGACTTTTCACAGTACCA	0.353000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				15	74					0	0	0.004007	0	0
NTNG1	22854	broad.mit.edu	37	1	107691255	107691255	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr1:107691255G>A	ENST00000370067.1	+	2	667	c.40G>A	c.(40-42)Gtt>Att	p.V14I	NTNG1_ENST00000370070.2_Missense_Mutation_p.V14I|NTNG1_ENST00000370072.3_Missense_Mutation_p.V14I|NTNG1_ENST00000370073.2_Missense_Mutation_p.V14I|NTNG1_ENST00000542803.1_Missense_Mutation_p.V14I|NTNG1_ENST00000370068.1_Missense_Mutation_p.V14I|NTNG1_ENST00000370061.3_Missense_Mutation_p.V14I|NTNG1_ENST00000370071.2_Missense_Mutation_p.V14I|NTNG1_ENST00000370065.1_Missense_Mutation_p.V14I|NTNG1_ENST00000370066.1_Missense_Mutation_p.V14I|NTNG1_ENST00000370074.4_Missense_Mutation_p.V14I			Q9Y2I2	NTNG1_HUMAN	netrin G1	14					axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TGCCCTTTGGGTTACGGTGTC	0.413000													9	116					0	0	0.006214	0	0
COIL	8161	broad.mit.edu	37	17	55027963	55027963	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr17:55027963G>C	ENST00000240316.4	-	2	674	c.640C>G	c.(640-642)Cag>Gag	p.Q214E		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	214						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CTACATCTCTGATTGGCCCAG	0.403000													32	93					0	0	0.002836	0	0
OSBPL5	114879	broad.mit.edu	37	11	3114832	3114832	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr11:3114832C>T	ENST00000263650.7	-	17	2030	c.1871G>A	c.(1870-1872)aGc>aAc	p.S624N	OSBPL5_ENST00000389989.3_Missense_Mutation_p.S556N|OSBPL5_ENST00000542243.1_Missense_Mutation_p.S255N|OSBPL5_ENST00000348039.5_Missense_Mutation_p.S556N|OSBPL5_ENST00000525498.1_Missense_Mutation_p.S535N|OSBPL5_ENST00000478260.1_Missense_Mutation_p.S78N	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	624					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GACCTCCCCGCTCGGGGTCCA	0.672000													6	56					0	0	0.001168	0	0
PSMC4	5704	broad.mit.edu	37	19	40480736	40480736	+	Splice_Site	SNP	G	G	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr19:40480736G>C	ENST00000157812.2	+	6	871		c.e6+1		PSMC4_ENST00000455878.2_Splice_Site	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACACAACAGGTGAGCCCTTT	0.587000													3	37					0	0	0.004672	0	0
NAGA	4668	broad.mit.edu	37	22	42463891	42463891	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr22:42463891G>A	ENST00000396398.3	-	3	734	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	NAGA_ENST00000402937.1_Missense_Mutation_p.R68W|NAGA_ENST00000403363.1_Missense_Mutation_p.R68W	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	68					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CCCATGTCCCGCCATCCATCC	0.612000													5	169					0	0	0.001168	0	0
C5orf42	65250	broad.mit.edu	37	5	37125477	37125477	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr5:37125477T>C	ENST00000274258.7	-	46	8946	c.5359A>G	c.(5359-5361)Act>Gct	p.T1787A	C5orf42_ENST00000425232.2_Missense_Mutation_p.T2889A|C5orf42_ENST00000512288.1_Intron|C5orf42_ENST00000508244.1_Missense_Mutation_p.T2889A			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2889										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCCTTGTCAGTTCTTTGTGAA	0.348000													9	79					0	0	0.008291	0	0
GABRA2	2555	broad.mit.edu	37	4	46314618	46314618	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr4:46314618G>T	ENST00000510861.1	-	5	544	c.371C>A	c.(370-372)cCa>cAa	p.P124Q	GABRA2_ENST00000514090.1_Missense_Mutation_p.P124Q|GABRA2_ENST00000515082.1_Missense_Mutation_p.P124Q|GABRA2_ENST00000540012.1_Missense_Mutation_p.P69Q|GABRA2_ENST00000507069.1_Missense_Mutation_p.P124Q|GABRA2_ENST00000381620.4_Missense_Mutation_p.P124Q|GABRA2_ENST00000356504.1_Missense_Mutation_p.P124Q			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	124					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAGGTATCTGGAGTCCAGAT	0.348000													6	86					3.59834e-05	6.46657e-05	0.001168	1	0
LMNA	4000	broad.mit.edu	37	1	156104644	156104644	+	Missense_Mutation	SNP	G	G	T	rs61214927		TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr1:156104644G>T	ENST00000368300.4	+	4	900	c.688G>T	c.(688-690)Gac>Tac	p.D230Y	LMNA_ENST00000361308.4_Missense_Mutation_p.D230Y|LMNA_ENST00000347559.2_Missense_Mutation_p.D230Y|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000392353.3_Missense_Mutation_p.D149Y|LMNA_ENST00000368297.1_Missense_Mutation_p.D149Y|LMNA_ENST00000368299.3_Missense_Mutation_p.D230Y|LMNA_ENST00000448611.2_Missense_Mutation_p.D118Y|LMNA_ENST00000368301.2_Missense_Mutation_p.D230Y|LMNA_ENST00000473598.2_Missense_Mutation_p.D131Y	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	230	Linker 2.|Rod.		D -> N (in FPLD2).		cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GGTGGAGATTGACAATGGGAA	0.567000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				64	372					7.05995e-25	1.41199e-24	0.003610	1	0
TMEM200C	645369	broad.mit.edu	37	18	5891622	5891622	+	Silent	SNP	C	C	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr18:5891622C>T	ENST00000581347.1	-	3	1086	c.441G>A	c.(439-441)acG>acA	p.T147T	TMEM200C_ENST00000383490.2_Silent_p.T147T|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	147						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						AGCCCACGGACGTGGAGGAGG	0.647000													11	56					0	0	0.000978	0	0
FAM131B	9715	broad.mit.edu	37	7	143054020	143054020	+	Missense_Mutation	SNP	C	C	G	rs147792476	by1000genomes	TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr7:143054020C>G	ENST00000409408.1	-	6	2330	c.622G>C	c.(622-624)Gat>Cat	p.D208H	FAM131B_ENST00000409578.1_Missense_Mutation_p.D224H|FAM131B_ENST00000443739.2_Missense_Mutation_p.D236H|FAM131B_ENST00000409346.1_Missense_Mutation_p.D208H|FAM131B_ENST00000409222.3_Missense_Mutation_p.D208H			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	208										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					AGGGACTGATCGCTGGCTTCC	0.567000													9	80					0	0	0.008291	0	0
MARS	4141	broad.mit.edu	37	12	57905574	57905574	+	Missense_Mutation	SNP	G	G	A	rs11540811		TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr12:57905574G>A	ENST00000262027.5	+	12	1596	c.1462G>A	c.(1462-1464)Gat>Aat	p.D488N	MARS_ENST00000315473.5_Missense_Mutation_p.D254N|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	488					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TTGGCTTCGGGATGGCCTCAA	0.512000													10	57					0	0	0.006214	0	0
EPHB1	2047	broad.mit.edu	37	3	134670614	134670614	+	Silent	SNP	C	C	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr3:134670614C>T	ENST00000398015.3	+	3	895	c.525C>T	c.(523-525)ctC>ctT	p.L175L	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	175						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTTTTTACCTCGCTTTTCAGG	0.463000													11	166					0	0	0.001855	0	0
KLHL11	55175	broad.mit.edu	37	17	40010209	40010209	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr17:40010209T>A	ENST00000319121.3	-	2	1970	c.1910A>T	c.(1909-1911)gAg>gTg	p.E637V		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	637						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CCTCTTCCTCTCCGCACAATA	0.453000													11	80					0	0	0.000978	0	0
FLNB	2317	broad.mit.edu	37	3	58120488	58120488	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr3:58120488G>C	ENST00000357272.4	+	27	4825	c.4660G>C	c.(4660-4662)Gtt>Ctt	p.V1554L	FLNB_ENST00000429972.2_Missense_Mutation_p.V1554L|FLNB_ENST00000419752.2_Missense_Mutation_p.V1385L|FLNB_ENST00000358537.3_Missense_Mutation_p.V1554L|FLNB_ENST00000348383.5_Missense_Mutation_p.V1554L|FLNB_ENST00000295956.4_Missense_Mutation_p.V1554L|FLNB_ENST00000490882.1_Missense_Mutation_p.V1585L|FLNB_ENST00000493452.1_Missense_Mutation_p.V1385L			O75369	FLNB_HUMAN	filamin B, beta	1554					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGCTTGCTGTTCAAATAAC	0.478000													13	136					0	0	0.001855	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	28					0	0	0.000248	0	0
USP18	11274	broad.mit.edu	37	22	18650053	18650053	+	Silent	SNP	C	C	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr22:18650053C>T	ENST00000215794.7	+	5	862	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	144					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						CCCAACTGTACCTCAAACTCT	0.473000													51	131					0	0	0.003610	0	0
HAUS3	79441	broad.mit.edu	37	4	2242641	2242641	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr4:2242641T>A	ENST00000243706.4	-	2	262	c.33A>T	c.(31-33)ttA>ttT	p.L11F	HAUS3_ENST00000506763.1_Missense_Mutation_p.L11F|HAUS3_ENST00000443786.2_Missense_Mutation_p.L11F|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	11					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAATTTTTTTTAATGTTTCCA	0.343000													5	57					0	0	0.001168	0	0
PSG8	440533	broad.mit.edu	37	19	43259214	43259214	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr19:43259214G>C	ENST00000404209.4	-	4	1010	c.914C>G	c.(913-915)aCa>aGa	p.T305R	PSG8_ENST00000306511.4_Missense_Mutation_p.T305R|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.T183R|PSG8_ENST00000401467.2_Missense_Mutation_p.T212R	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	305	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATAGGGTCCTGTTTCATTTCT	0.488000													8	201					0	0	0.001368	0	0
STS	412	broad.mit.edu	37	X	7243499	7243499	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chrX:7243499A>G	ENST00000217961.4	+	8	1436	c.1216A>G	c.(1216-1218)Aca>Gca	p.T406A		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	406					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CATATTTCCTACAGTAGCCAA	0.542000									Ichthyosis				12	72					0	0	0.002450	0	0
EFNB3	1949	broad.mit.edu	37	17	7612700	7612700	+	Silent	SNP	C	C	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr17:7612700C>T	ENST00000226091.2	+	5	1226	c.829C>T	c.(829-831)Ctg>Ttg	p.L277L		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	277					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GTCTCTGGGCCTGGGGGGTGG	0.711000													36	26					0	0	0.004289	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028285	59028285	+	Silent	SNP	C	C	T	rs139996055		TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr19:59028285C>T	ENST00000594051.1	-	2	1236	c.756G>A	c.(754-756)gcG>gcA	p.A252A	ZBTB45_ENST00000354590.3_Silent_p.A252A|ZBTB45_ENST00000600990.1_Silent_p.A252A			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCTCCTCGCACGCGCTGTCAG	0.642000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	195					0	0	0.001984	0	0
C10orf120	399814	broad.mit.edu	37	10	124457787	124457787	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr10:124457787G>A	ENST00000329446.4	-	3	501	c.470C>T	c.(469-471)cCa>cTa	p.P157L		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	157										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CTCTCGTTGTGGCATTTTAAA	0.448000													15	115					0	0	0.002450	0	0
AP3B2	8120	broad.mit.edu	37	15	83335548	83335548	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr15:83335548C>A	ENST00000261722.3	-	15	2010	c.1803G>T	c.(1801-1803)aaG>aaT	p.K601N	AP3B2_ENST00000535359.1_Missense_Mutation_p.K601N|AP3B2_ENST00000535348.1_Missense_Mutation_p.K569N|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	601					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCAGGAAGAGCTTCTTGGCAT	0.567000													7	73					3.86212e-05	6.84147e-05	0.008291	1	0
CPSF3L	54973	broad.mit.edu	37	1	1249296	1249296	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr1:1249296C>T	ENST00000540437.1	-	11	1246	c.791G>A	c.(790-792)cGc>cAc	p.R264H	CPSF3L_ENST00000545578.1_Missense_Mutation_p.R229H|CPSF3L_ENST00000411962.1_Missense_Mutation_p.R160H|CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000450926.2_Missense_Mutation_p.R236H|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000419704.1_Missense_Mutation_p.R157H|CPSF3L_ENST00000435064.1_Missense_Mutation_p.R258H	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	258						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CAGGTTCATGCGCTCCCTGGG	0.627000													4	63					0	0	0.000248	0	0
BTN2A1	11120	broad.mit.edu	37	6	26459768	26459768	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr6:26459768A>G	ENST00000429381.1	+	3	354	c.142A>G	c.(142-144)Acg>Gcg	p.T48A	BTN2A1_ENST00000312541.5_Missense_Mutation_p.T48A|BTN2A1_ENST00000469185.1_Missense_Mutation_p.T48A|BTN2A1_ENST00000541522.1_5'UTR			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	48	Ig-like V-type.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						AGAAAACACTACGTTACGCTG	0.532000													4	53					0	0	0.000248	0	0
NUP210	23225	broad.mit.edu	37	3	13415274	13415274	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr3:13415274A>C	ENST00000254508.5	-	12	1613	c.1531T>G	c.(1531-1533)Ttc>Gtc	p.F511V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	511					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ATCACACTGAACCCGATGTCA	0.577000													7	36					0	0	0.004482	0	0
IL6	3569	broad.mit.edu	37	7	22767201	22767201	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr7:22767201T>C	ENST00000404625.1	+	3	617	c.158T>C	c.(157-159)aTt>aCt	p.I53T	IL6_ENST00000401630.3_Missense_Mutation_p.I30T|IL6_ENST00000401651.1_Intron|IL6_ENST00000406575.1_Missense_Mutation_p.I53T|IL6_ENST00000258743.5_Missense_Mutation_p.I53T|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000420258.2_Missense_Mutation_p.I107T|IL6_ENST00000407492.1_Intron			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	53					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	TCAGAACGAATTGACAAACAA	0.577000													16	59					0	0	0.004007	0	0
AOX1	316	broad.mit.edu	37	2	201499523	201499523	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr2:201499523A>C	ENST00000374700.2	+	21	2472	c.2231A>C	c.(2230-2232)cAt>cCt	p.H744P	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	744					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGTGAAATACATATGGGAGGT	0.428000													4	28					0	0	0.000248	0	0
MTMR3	8897	broad.mit.edu	37	22	30419457	30419457	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr22:30419457G>A	ENST00000333027.3	+	19	3654	c.3326G>A	c.(3325-3327)cGt>cAt	p.R1109H	MTMR3_ENST00000406629.1_Missense_Mutation_p.R1109H|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Intron|MTMR3_ENST00000401950.2_Intron|MTMR3_ENST00000351488.3_Intron	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1142					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GACACTGACCGTGTTGATCAA	0.493000													17	76					0	0	0.001523	0	0
UNC5D	137970	broad.mit.edu	37	8	35606133	35606133	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr8:35606133A>G	ENST00000287272.2	+	11	1668	c.1648A>G	c.(1648-1650)Acc>Gcc	p.T550A	UNC5D_ENST00000449677.1_Missense_Mutation_p.T195A|UNC5D_ENST00000416672.1_Missense_Mutation_p.T624A|UNC5D_ENST00000404895.2_Missense_Mutation_p.T619A|UNC5D_ENST00000420357.1_Missense_Mutation_p.T552A|UNC5D_ENST00000453357.2_Missense_Mutation_p.T614A			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	619	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTTTGCATTGACCATCCCGCA	0.507000													7	91					0	0	0.003080	0	0
PTPRK	5796	broad.mit.edu	37	6	128306985	128306985	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr6:128306985G>T	ENST00000368227.3	-	23	3549	c.3183C>A	c.(3181-3183)ttC>ttA	p.F1061L	PTPRK_ENST00000532331.1_Missense_Mutation_p.F1066L|PTPRK_ENST00000368213.5_Missense_Mutation_p.F1050L|PTPRK_ENST00000368226.4_Missense_Mutation_p.F1044L|PTPRK_ENST00000368215.3_Missense_Mutation_p.F1043L|PTPRK_ENST00000368207.3_Missense_Mutation_p.F1076L|PTPRK_ENST00000368210.3_Missense_Mutation_p.F1062L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1043	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCGTGAAATGGAACTGTTTAA	0.463000													13	95					2.61681e-11	5.07008e-11	0.002450	1	0
TDRD9	122402	broad.mit.edu	37	14	104492057	104492057	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr14:104492057G>T	ENST00000409874.4	+	26	2923	c.2875G>T	c.(2875-2877)Gat>Tat	p.D959Y	TDRD9_ENST00000339063.5_Missense_Mutation_p.D959Y	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	959	Tudor.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGCTGATTTTGATAAACAACG	0.443000													11	250					9.70103e-10	1.85066e-09	0.008291	1	0
DSCAM	1826	broad.mit.edu	37	21	41561098	41561098	+	Silent	SNP	G	G	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr21:41561098G>A	ENST00000400454.1	-	12	2901	c.2424C>T	c.(2422-2424)agC>agT	p.S808S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	808	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCGCCGTGCAGCTCATCTCCT	0.512000													8	65					0	0	0.003080	0	0
THBD	7056	broad.mit.edu	37	20	23029065	23029065	+	Silent	SNP	G	G	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr20:23029065G>A	ENST00000377103.2	-	1	1313	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	359	EGF-like 3; calcium-binding (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	CACACTCGCCGTCCACCAGGT	0.617000													7	53					0	0	0.003080	0	0
OPRK1	4986	broad.mit.edu	37	8	54142230	54142230	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr8:54142230C>T	ENST00000265572.3	-	4	1067	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	OPRK1_ENST00000524278.1_Missense_Mutation_p.R168Q|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.R257Q	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	257					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGAAAGGAGCCGGACGCTCTT	0.547000													6	58					0	0	0.003080	0	0
CASP3	836	broad.mit.edu	37	4	185552246	185552246	+	Silent	SNP	C	C	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr4:185552246C>T	ENST00000308394.4	-	7	811	c.549G>A	c.(547-549)gcG>gcA	p.A183A	CASP3_ENST00000393588.4_Intron|CASP3_ENST00000523916.1_Silent_p.A183A|CASP3_ENST00000393585.2_Intron|CASP3_ENST00000517513.1_Intron	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	183					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTTATGACACGCCATGTCAT	0.408000													10	42					0	0	0.001368	0	0
KLHL13	90293	broad.mit.edu	37	X	117043438	117043438	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chrX:117043438T>C	ENST00000371876.1	-	4	3460	c.1039A>G	c.(1039-1041)Agt>Ggt	p.S347G	KLHL13_ENST00000262820.3_Missense_Mutation_p.S398G|KLHL13_ENST00000371878.1_Missense_Mutation_p.S347G|KLHL13_ENST00000371882.1_Missense_Mutation_p.S347G|KLHL13_ENST00000541812.1_Missense_Mutation_p.S382G|KLHL13_ENST00000540167.1_Missense_Mutation_p.S382G|KLHL13_ENST00000469946.1_Missense_Mutation_p.S347G|KLHL13_ENST00000545703.1_Missense_Mutation_p.S356G|KLHL13_ENST00000539496.1_Missense_Mutation_p.S401G			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	398					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCATAATTACTCTGTCCGCCA	0.433000													6	51					0	0	0.001168	0	0
CDKL1	8814	broad.mit.edu	37	14	50805722	50805722	+	Silent	SNP	T	T	C			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr14:50805722T>C	ENST00000216378.2	-	7	1328	c.684A>G	c.(682-684)caA>caG	p.Q228Q	CDKL1_ENST00000356146.1_5'UTR|CDKL1_ENST00000395834.1_Silent_p.Q228Q			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	227	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					TGCTAAACACTTGCTGGTGCC	0.433000													23	127					0	0	0.003954	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33631008	33631008	+	Silent	SNP	A	A	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr5:33631008A>G	ENST00000504830.1	-	13	2234	c.1899T>C	c.(1897-1899)tgT>tgC	p.C633C	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	633	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTAGAGCTCACAAGGATGTG	0.493000										HNSCC(64;0.19)			6	78					0	0	0.004482	0	0
POLQ	10721	broad.mit.edu	37	3	121203899	121203899	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr3:121203899T>G	ENST00000264233.5	-	17	5890	c.5762A>C	c.(5761-5763)cAa>cCa	p.Q1921P		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1921					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAATGCTTTTGTTCCTTCTG	0.388000								DNA polymerases (catalytic subunits)					4	51					0	0	0.000248	0	0
LIPA	3988	broad.mit.edu	37	10	90982327	90982327	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr10:90982327C>T	ENST00000336233.5	-	8	1157	c.835G>A	c.(835-837)Gta>Ata	p.V279I	LIPA_ENST00000371837.1_Missense_Mutation_p.V223I|LIPA_ENST00000456827.1_Missense_Mutation_p.V279I			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	279					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GTTGTATATACATCCACTCTA	0.378000													8	50					0	0	0.008291	0	0
MUC3A	4584	broad.mit.edu	37	7	100549654	100549654	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr7:100549654A>T	ENST00000379458.4	+	2	235	c.235A>T	c.(235-237)Act>Tct	p.79_79insS	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TATGACACTCACTACCTCCCC	0.557000													10	99					0	0	0.006214	0	0
GNL1	2794	broad.mit.edu	37	6	30522617	30522617	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr6:30522617C>G	ENST00000376621.3	-	4	1422	c.452G>C	c.(451-453)aGc>aCc	p.S151T		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	151					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTCTTGGAAGCTCCGTTCCTC	0.488000													14	75					0	0	0.003163	0	0
BRS3	680	broad.mit.edu	37	X	135574443	135574443	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chrX:135574443C>T	ENST00000370648.3	+	3	1337	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	370					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GTGATGGGAACGGTCCCGGGC	0.522000													11	108					0	0	0.008291	0	0
LRRC1	55227	broad.mit.edu	37	6	53660191	53660191	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr6:53660191A>G	ENST00000370888.1	+	1	414	c.137A>G	c.(136-138)aAc>aGc	p.N46S	LRRC1_ENST00000370882.1_Missense_Mutation_p.N46S	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	46						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTGGACGCCAACCAGCTCCGC	0.662000													5	21					0	0	0.001168	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	36					0	0	0.001168	0	0
NEO1	4756	broad.mit.edu	37	15	73570504	73570504	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr15:73570504C>A	ENST00000339362.5	+	23	3673	c.3226C>A	c.(3226-3228)Cca>Aca	p.P1076T	NEO1_ENST00000560262.1_Missense_Mutation_p.P1076T|NEO1_ENST00000558964.1_Missense_Mutation_p.P1065T|NEO1_ENST00000261908.6_Missense_Mutation_p.P1076T			Q92859	NEO1_HUMAN	neogenin 1	1076					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAGCCGGCTGCCAGACCTAGG	0.463000													13	121					1.52009e-12	2.99193e-12	0.003163	1	0
GFOD1	54438	broad.mit.edu	37	6	13365622	13365622	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr6:13365622C>T	ENST00000379287.3	-	2	1190	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	GFOD1_ENST00000379284.1_Missense_Mutation_p.V73M	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	176						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TAGGTGCCCACGGAGTGCAGG	0.632000													7	23					0	0	0.001984	0	0
C16orf89	146556	broad.mit.edu	37	16	5115990	5115990	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr16:5115990delT	ENST00000350219.4	-	1	121	c.34delA	c.(34-36)ggfs	p.R13fs	C16orf89_ENST00000422873.1_Frame_Shift_Del_p.R13fs|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000315997.5_5'UTR|C16orf89_ENST00000472572.3_5'UTR			Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	0						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CACGCCCTCCTCCCACCTCCT	0.672													2	4	---	---	---	---					
MBOAT7	79143	broad.mit.edu	37	19	54692318	54692318	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ER-A197-06A-32D-A197-08	TCGA-ER-A197-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e172cc4e-c4bd-4099-a63a-d3a0d11f13e0	4fa913e4-1d68-4021-8eb7-c4dbf737479c	g.chr19:54692318delG	ENST00000245615.1	-	2	525	c.45delC	c.(43-45)tcfs	p.S15fs	MBOAT7_ENST00000391754.1_Frame_Shift_Del_p.S15fs|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000431666.2_5'UTR|MBOAT7_ENST00000474910.1_Intron	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	15					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGATGGGGATGGAGATAAGAA	0.557											OREG0003643	type=REGULATORY REGION|Gene=LENG4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2	4	---	---	---	---